3284[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 155139	GRCh38/hg38 1p12(chr1:118933857-119977655)x1	ADAM30, HAO2 +38 more	Copy number loss	See cases	GUncertain significance
Select item 150800	GRCh38/hg38 1p12(chr1:119146352-119480599)x3	HAO2, HAO2-IT1 +7 more	Copy number gain	See cases	GLikely benign
Select item 292254	NM_000198.3(HSD3B2):c.-145G>A	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	Congenital adrenal hyperplasia +1 more	GConflicting classifications of pathogenicity
Select item 876143	NM_000198.4(HSD3B2):c.-106T>C	HSD3B2, LOC109029530	Single nucleotide variant (5 prime UTR variant +1 more)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 2748075	NM_000198.4(HSD3B2):c.1A>T (p.Met1Leu)	HSD3B2, LOC109029530 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 719939	NM_000198.4(HSD3B2):c.5G>T (p.Gly2Val)	HSD3B2, LOC109029530 (G2V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2897594	NM_000198.4(HSD3B2):c.6C>T (p.Gly2=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 946461	NM_000198.4(HSD3B2):c.9G>A (p.Trp3Ter)	HSD3B2, LOC109029530 (W3*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic
Select item 1114598	NM_000198.4(HSD3B2):c.12C>T (p.Ser4=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 292255	NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)	HSD3B2, LOC109029530 (C5S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2836295	NM_000198.4(HSD3B2):c.15C>T (p.Cys5=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1076441	NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter)	HSD3B2, LOC109029530 (C5*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic
Select item 3107173	NM_000198.4(HSD3B2):c.22A>G (p.Thr8Ala)	HSD3B2, LOC109029530 (T8A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1135782	NM_000198.4(HSD3B2):c.27A>G (p.Gly9=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 12188	NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)	HSD3B2, LOC109029530 (A10E)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GLikely pathogenic
Select item 1091121	NM_000198.4(HSD3B2):c.33A>G (p.Gly11=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513071	NM_000198.4(HSD3B2):c.35G>A (p.Gly12Glu)	HSD3B2, LOC109029530 (G12E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1130284	NM_000198.4(HSD3B2):c.36G>A (p.Gly12=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538654	NM_000198.4(HSD3B2):c.39T>A (p.Leu13=)	LOC109029530, HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107176	NM_000198.4(HSD3B2):c.41T>C (p.Leu14Pro)	HSD3B2, LOC109029530 (L14P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1090784	NM_000198.4(HSD3B2):c.48G>A (p.Gln16=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753018	NM_000198.4(HSD3B2):c.51G>A (p.Arg17=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1612290	NM_000198.4(HSD3B2):c.54C>T (p.Ile18=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1672505	NM_000198.4(HSD3B2):c.57C>T (p.Val19=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841686	NM_000198.4(HSD3B2):c.60C>T (p.Arg20=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1129053	NM_000198.4(HSD3B2):c.60C>G (p.Arg20=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451900	NM_000198.4(HSD3B2):c.65dup (p.Leu22fs)	HSD3B2, LOC109029530 (L22fs)	Duplication (frameshift variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic
Select item 2865706	NM_000198.4(HSD3B2):c.76A>T (p.Lys26Ter)	HSD3B2, LOC109029530 (K26*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2034193	NM_000198.4(HSD3B2):c.81A>G (p.Glu27=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696627	NM_000198.4(HSD3B2):c.90G>A (p.Glu30=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795004	NM_000198.4(HSD3B2):c.96G>A (p.Arg32=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1623651	NM_000198.4(HSD3B2):c.99C>T (p.Ala33=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076342	NM_000198.4(HSD3B2):c.114C>T (p.Phe38=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763524	NM_000198.4(HSD3B2):c.117A>G (p.Arg39=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753566	NM_000198.4(HSD3B2):c.124T>C (p.Leu42=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2961055	NM_000198.4(HSD3B2):c.131_132del (p.Glu44fs)	HSD3B2, LOC109029530 (E44fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2094534	NM_000198.4(HSD3B2):c.127A>C (p.Arg43=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008034	NM_000198.4(HSD3B2):c.132G>A (p.Glu44=)	HSD3B2, LOC109029530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697329	NM_000198.4(HSD3B2):c.133G>T (p.Glu45Ter)	HSD3B2, LOC109029530 (E45*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2702010	NM_000198.4(HSD3B2):c.142+9A>T	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764053	NM_000198.4(HSD3B2):c.142+11T>C	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885258	NM_000198.4(HSD3B2):c.142+15G>A	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890098	NM_000198.4(HSD3B2):c.142+16T>G	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699808	NM_000198.4(HSD3B2):c.142+17C>T	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955586	NM_000198.4(HSD3B2):c.142+18A>T	HSD3B2, LOC109029530	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214246	NM_000198.4(HSD3B2):c.143-215G>A	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884899	NM_000198.4(HSD3B2):c.143-20C>G	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999760	NM_000198.4(HSD3B2):c.143-19C>G	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912331	NM_000198.4(HSD3B2):c.143-17G>C	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105798	NM_000198.4(HSD3B2):c.143-17G>A	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019354	NM_000198.4(HSD3B2):c.143-15C>A	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1108365	NM_000198.4(HSD3B2):c.143-10G>C	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 654097	NC_000001.11:g.(?_119419408)_(119419592_?)del	HSD3B2	Deletion	not provided	GLikely pathogenic
Select item 763823	NM_000198.4(HSD3B2):c.143-7C>T	HSD3B2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2749927	NM_000198.4(HSD3B2):c.143-4A>G	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1347611	NM_000198.4(HSD3B2):c.143-1G>C	HSD3B2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1631620	NM_000198.4(HSD3B2):c.147C>G (p.Leu49=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1148876	NM_000198.4(HSD3B2):c.150G>A (p.Gln50=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2086405	NM_000198.4(HSD3B2):c.154_162delinsTCCTGTT (p.Arg52fs)	HSD3B2 (R52fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1529344	NM_000198.4(HSD3B2):c.159C>A (p.Thr53=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794417	NM_000198.4(HSD3B2):c.159C>G (p.Thr53=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109582	NM_000198.4(HSD3B2):c.168T>G (p.Thr56=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2731762	NM_000198.4(HSD3B2):c.180del (p.Asp61fs)	HSD3B2 (D61fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1572934	NM_000198.4(HSD3B2):c.189G>A (p.Leu63=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015002	NM_000198.4(HSD3B2):c.207A>G (p.Lys69=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023384	NM_000198.4(HSD3B2):c.213C>T (p.Ala71=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568297	NM_000198.4(HSD3B2):c.213C>A (p.Ala71=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445872	NM_000198.4(HSD3B2):c.216C>A (p.Cys72Ter)	HSD3B2 (C72*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 720898	NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn)	HSD3B2 (D74N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 292256	NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2281875	NM_000198.4(HSD3B2):c.223G>A (p.Val75Ile)	HSD3B2 (V75I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 765365	NM_000198.4(HSD3B2):c.225C>G (p.Val75=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126733	NM_000198.4(HSD3B2):c.228G>A (p.Ser76=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GLikely benign
Select item 1109691	NM_000198.4(HSD3B2):c.231C>T (p.Val77=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664185	NM_000198.4(HSD3B2):c.240C>A (p.His80Gln)	HSD3B2 (H80Q)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 1096396	NM_000198.4(HSD3B2):c.243C>T (p.Thr81=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1070043	NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)	HSD3B2 (A82T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1148951	NM_000198.4(HSD3B2):c.246C>T (p.Ala82=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1160815	NM_000198.4(HSD3B2):c.258T>C (p.Asp86=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1081614	NM_000198.4(HSD3B2):c.261C>A (p.Val87=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080927	NM_000198.4(HSD3B2):c.264T>C (p.Phe88=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1107321	NM_000198.4(HSD3B2):c.267T>A (p.Gly89=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328204	NM_000198.4(HSD3B2):c.274C>G (p.His92Asp)	HSD3B2 (H92D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1140218	NM_000198.4(HSD3B2):c.276C>T (p.His92=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694521	NM_000198.4(HSD3B2):c.280G>C (p.Glu94Gln)	HSD3B2 (E94Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3010528	NM_000198.4(HSD3B2):c.285C>T (p.Ser95=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491199	NM_000198.4(HSD3B2):c.287T>C (p.Ile96Thr)	HSD3B2 (I96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2913853	NM_000198.4(HSD3B2):c.294T>C (p.Asn98=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709722	NM_000198.4(HSD3B2):c.295G>T (p.Val99Phe)	HSD3B2 (V99F)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 1457738	NM_000198.4(HSD3B2):c.299A>G (p.Asn100Ser)	HSD3B2 (N100S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1557660	NM_000198.4(HSD3B2):c.300T>C (p.Asn100=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140725	NM_000198.4(HSD3B2):c.301G>T (p.Val101Leu)	HSD3B2 (V101L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964067	NM_000198.4(HSD3B2):c.307+1G>A	HSD3B2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1594594	NM_000198.4(HSD3B2):c.307+8A>G	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860746	NM_000198.4(HSD3B2):c.307+16del	HSD3B2	Deletion (intron variant)	not provided	GBenign
Select item 2755325	NM_000198.4(HSD3B2):c.307+13G>C	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708780	NM_000198.4(HSD3B2):c.307+17A>T	HSD3B2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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